The overall goal of the program is to train highly competent clinical medical geneticists who are able to provide state-of-the-art diagnostic, management and counseling services for a wide variety of genetic disorders.
The resident's assignments during the 2-year genetic residency are based on each activity's educational value toward achieving the program objectives and are not dictated by the service needs.
Genetic Residency Training Components
The residents audit graduate-level courses covering the basic science and its clinical applications in:
- Biochemical Genetics
- Molecular Genetics
- Quantitative Genetics
- Genetics of Cancer, Embryology and Dysmorphology
- Overview of Human Genetics
They will also audit courses on the psychosocial, ethical and legal issues in clinical genetics. Additionally, they will regularly attend genetic seminars and conferences.
- To acquire the basic science knowledge in all areas of genetics and learn to apply it to specific clinical situations.
- To be exposed to presentations given by local and nationally known scientists; to gain the most current scientific information; to learn how to/not to structure a presentation; to establish professional contacts with nationally known scientists for possible future scientific collaboration.
Residency training includes extensive clinical involvement in the evaluation and counseling of children and adults.
Residents are assigned for a 6-month rotation to General Genetics/ Dysmorphology and Inherited Metabolic Disease clinics, and for a 3-month rotation to Prenatal Diagnosis and Familial Cancer clinics. Additionally, they are assigned to Neuromuscular Clinic, Neurocutaneous Clinic, Hemophilia, Cystic Fibrosis, Cleft Lip/Palate and Spina Bifida multi-specialty management clinics and Fragile X evaluation and management clinics.
After gaining initial experience in genetic patient evaluations, they are assigned to participate with the Genetic Service team in patient evaluation in Colorado-Wyoming Outreach Clinics. Residents, not assigned to any laboratory rotation, will participate in outpatient clinic evaluations 1 to 2 days per week throughout the residency training.
Inpatient Experience and "On Call" Schedule
During the regular daytime hours, residents are notified of each request for consult. The resident is the first to respond to the consult.
On call genetic faculty call residents during the off-hours anytime there is a consult for a rare condition or if it has significant educational value for other reasons.
Goals and Objectives of Rotations:
The goals and objectives of all of these rotations for the residents are:
- To see at least 100 patients annually.
- To be exposed to the greatest possible variety of genetic disorders.
- To have the opportunity to appreciate the phenotypic variability of these disorders.
- To gain competency for diagnosing genetic diseases, including the recognition of the physical features, clinical variability and natural history, all of which will help to formulate a differential diagnosis.
- To understand the benefits and limitations of diagnostic tests; indications for ordering the tests and interpretation of test results.
- To gain competency to understand management choices for the patients, including medical as well as ethical and psychosocial considerations.
- To develop counseling skills allowing them to interact with the family and provide genetic counseling in a sensitive, individualized professional manner.
- To be comfortable communicating the impressions and recommendations from patient evaluations to other health professionals.
Additional Specific Educational Objectives of Specific Clinic Rotations:
IMD Clinic (Inborn Metabolic Diseases):
- to recognize the symptoms of IMD in medical emergency situations
- to know what screening/testing a PCP should order in emergency situations
- to interpret the metabolic results
Prenatal Diagnosis Clinic:
- to learn the differential diagnosis of abnormalities detected by prenatal ultrasound
- to understand the implications of maternal serum screening tests results and indications for further testing
- to learn what prenatal techniques and at what gestational age are appropriate to address the parents' concerns
- to be able to accept and support all parental decisions regarding the management of an abnormal fetus
Hereditary Cancer Clinic:
- to understand the hereditary bases of familial cancers
- to learn the clinical variability of cancer syndromes
- to gain the current knowledge regarding diagnostic and pre-symptomatic molecular testing in hereditary cancer families, including the psychosocial considerations
- to understand the indications, benefits and potential harm of testing
- to learn the genetic mechanisms involved in bleeding disorders
- to understand the burden of these disorders, the natural histories and treatment modalities
- to be able to provide genetic counseling and order carrier testing
- to learn the current diagnostic criteria for NF and TSC
- to understand the natural history and indications for available interventions
- to know the status of molecular testing for these conditions
- to recognize the phenotypes of the hereditary neuromuscular disorders
- to understand the genetic bases of these disorders
- to become familiar with the available molecular and other diagnostic and carrier testing
Cleft Palate Clinic:
- to differentiate isolated facial cleft from syndromes associates with clefts
Sickle Cell Clinic:
- to learn the phenotypes and genetic bases of hemoglobinopathies
Cystic Fibrosis Clinic:
- to learn about the burden of the disorder and prevention of complications and treatment modalities
The residents are assigned for a minimum 2-week rotation (maximum 3 months) through each of the following clinical diagnostic genetic laboratories:
- Cytogenetics Laboratory - Loris McGavran, PhD, Director
- Molecular Genetics Laboratory - Elaine Spector, PhD, Director
- Biochemical Genetics Laboratory - Stephen I. Goodman, MD, Director
Goals and Education Objectives:
- To understand the diagnostic techniques used at the laboratory.
- To learn the advantages and limitations of each test.
- To learn what specimens are used for each test.
- To interpret the clinical significance of the test results, the need for further testing to clarify any ambiguity or further define an abnormality.
Note: The objective is NOT to be proficient in performing the tests.
Each resident will be involved in a clinical or bench research project and in submission of an abstract and preparation of a manuscript, which may be a case report. The chosen project has to have a realistic chance to produce publishable results before the completion of residency.
Goals and Educational Objectives:
- To learn research methodology.
- To learn an approach to a clinical research study.
- To learn about Informed Consent and IRB approval process.
- To learn how to evaluate the results, including the utilization of statistical methods.
- To experience writing and the submission of an abstract to a national meeting.
- To experience writing and submitting a manuscript.